Boy’s Skin becomes hard as stone –Stiff Skin Syndrome

A 12-year-old boy from Colorado had a rare disease which hardened his skin like a stone.

His father first took him to see a doctor after he noted a hard lump on the boy's right thigh. Later he was diagnosed with stiff skin syndrome. The painful disease kept spreading, to his stomach, hips and his back. Later it spreads to his chest area, caused breathing issues.

Stiff skin syndrome causes a person's skin to harden and thicken across the entire body. This thickening results in a person being unable to move his or her joints, leaving the joints stuck in a bent position. The genetic disorder affects the protein named fibrillin-1, which allows the elastic fibers in the skin to stretch.

This progressive disease usually affects the shoulders, knees and elbows and could also make it difficult to bend the fingers. Other symptoms include loss of body fat, excessive hair growth, scoliosis, slow growth, muscle weakness and short stature.

At present, there are no treatments that could reverse the symptoms of stiff skin syndrome. Only physical therapy could bring some relief in joint-movement issues.

Moreover, there is evidence that an immunosuppressive drug called mycophenolate mofetil may improve symptoms if administered along with physical therapy.

The post Boy’s Skin becomes hard as stone –Stiff Skin Syndrome appeared first on Drugdu.com

from Drugdu  https://goo.gl/QgQoHk

Phase 3 Gene Therapy Study on Hemophilia B Launched by Pfizer

Pfizer has initiated its new work on a phase 3 study of an investigational gene therapy designed to treat hemophilia B.

Along with Spark Therapeutics, Pfizer launched a phase 3 lead-in study at several centers to assess the efficacy and safety of present factor IX prophylaxis replacement therapy in the regular care provisions.

The efficacy data that will be generated from the lead-in study will become the within-subject control group for patients who sign up in the subsequent part of the phase 3 study. This study will then assess fidanacogene elaparvovec (formerly SPK-9001) for the treatment of hemophilia B.

As per the data from an ongoing phase 1/2 trial of fidanacogene elaparvovec released by Pfizer and Spark Therapeutics in May 2018, all 15 participants with hemophilia B could discontinue regular infusion of factor IX concentrates without grave unfavorable incidents. Fidanacogene elaparvovec, a vector, contains a bioengineered adeno-associated virus capsid and a human coagulation factor IX gene which is highly active.

The post Phase 3 Gene Therapy Study on Hemophilia B Launched by Pfizer appeared first on Drugdu.com

from Drugdu  https://goo.gl/QgQoHk